Bone problems are highly common among people with Gaucher disease, with symptoms including chronic bone pain, death of bone…
Articles by Patricia Inacio PhD
The Gaucher Earlier Diagnosis Consensus (GED-C) initiative — a global project aimed at building expert consensus of the disorder’s diagnosis…
Enzyme replacement therapy (ERT) has limited effectiveness in addressing bone-related symptoms in Gaucher disease, namely the death of bone tissue…
Gaucher disease patients — especially those receiving enzyme replacement therapy — have a higher incidence of complications and other diseases…
The Icahn School of Medicine at Mount Sinai is repurposing pentosan polysulfate sodium — an anti-inflammatory medicine approved as Elmiron…
Gaucher disease patients harboring a D409H mutation in the GBA gene show calcification — deposits of calcium salts — in the…
Brain inflammation in Gaucher disease and two other lysosomal disorders is not caused by infiltrating macrophages to the central…
Laparoscopy, a minimally invasive surgery also known as keyhole surgery, was successful at resecting a large painful cyst from…
Liver transient elastography, a noninvasive technique that measures liver stiffness, can be used to evaluate whether enzyme replacement therapy is improving…
In rare cases where Parkinson’s disease occurs in Gaucher disease patients, mutations in the GBA gene — which cause…